[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"lama2-md-merosin-deficient-congenital-muscular-dystrophy-mdc1a\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:lama2-md-merosin-deficient-congenital-muscular-dystrophy-mdc1a":55},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,44,66,91],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":43},"100554767","observation-study-in-patients-age-0-5-years-with-lama2-related-congenital-muscular-dystrophy-100554767",false,"NCT06503367","Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy","Establishing Clinical Trial Readiness for Children 0-5 Years With Congenital Muscular Dystrophy Secondary to LAMA2 Mutations (READY CMD LAMA2)","Inclusion Criteria:\n\n* Signed informed consent by the subject, parent(s) or legally authorized representative (LAR) and\u002For assent by the subject (when applicable).\n* Subject must be aged birth to less than 5.0 years of age at time of consent.\n* A confirmed diagnosis of LAMA2-RD confirmed via:\n\n  a: Two pathogenic variants in the LAMA2 gene (via a CLIA-approved laboratory) or: b. muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene\n* Absence of another confirmed genetic disease.\n* Willingness to maintain current exercise and\u002For physical therapy regimen for the duration of the clinical study.\n* Willingness to comply with the study protocol, including but not limited to, all study procedures and visits.\n\nExclusion Criteria:\n\n* Acute medical illness or hospitalization within 30 days prior to informed consent.\n* Participation in a previous trial of any investigational agent for LAMA2-RD within 1 month prior to informed consent, or use of any other investigational therapy (including off-label use of Losartan) within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 3 half-lives, whichever is longer) prior to informed consent, which in the opinion of the PI, may potentially confound results from this study.\n* Other significant medical condition, which in the opinion of the site Principal Investigator may confound interpretation of the clinical course of LAMA2- RD.","ALL","5 Years",{"count":19,"type":20},44,"ESTIMATED","OBSERVATIONAL","The goal of this observational study is to understand how young children with LAMA2-related dystrophy move and change over time. We will also learn about how this condition impacts other body systems.\n\nParticipants will undergo:\n\n* Neuromuscular assessments\n* Blood collections\n* Swallowing and breathing assessments\n* Questionnaires",[24],"LAMA2-MD \\(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\\)",[26,27,28,29,30],"Early Phase 1","Observational","Natural History","Neuromuscular","Functional Assessments","RECRUITING","2026-08-17",{"date":34,"type":35},"2026-08-19","ACTUAL",{"date":37,"type":35},"2025-05-12",{"date":39,"type":20},"2028-09",{"name":41,"class":42},"Nationwide Children's Hospital","OTHER",14,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":48,"acronym":49,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":51,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":53,"conditions":54,"keywords":4,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":56,"lastUpdatePostDateStruct":57,"startDateStruct":59,"completionDateStruct":61,"leadSponsor":63,"locationsCount":65},"100650284","preclinical-assessment-of-an-engineered-hmgb1-protein-as-a-novel-companion-therapy-for-muscular-dystrophies-100650284","NCT07745218","Preclinical Assessment of an Engineered HMGB1 Protein as a Novel Companion Therapy for Muscular Dystrophies","HEAL-MD","Inclusion Criteria:\n\n1. Patients affected by LAMA2-related muscular dystrophy (LAMA2-RD) actively enrolled in the LAMA2\\_GUP24002 study.\n2. Patients who have ALREADY SIGNED the informed consent for participation in the LAMA2\\_GUP24002 study, including the separate biobank-specific consent (INSPE BIOBANK CONSENT), with consent provided directly by adult patients or, in the case of minors, by their parents or legal guardians.\n\nExclusion Criteria:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Withdrawal of informed consent (to the LAMA2\\_GUP24002 study or to biobanking) prior to laboratory analysis.\n2. Insufficient or degraded biological material (e.g., depleted aliquots; volumes below assay requirements; biopsy not representative of LAMA2-RD muscle).\n3. Re-classification of diagnosis as a non-LAMA2-RD condition after the original enrolment in the LAMA2\\_GUP24002 study.",{"count":52,"type":20},25,"This is a monocentric, no-profit, retrospective and prospective observational cohort study conducted at IRCCS Ospedale San Raffaele.\n\nThe study does not entail any additional procedures or interventions for participants. Biological samples (including blood\u002Fserum and muscle biopsies) are obtained for a previously approved study (LAMA2\\_GUP24002) and collected under the existing BancaINSpe informed consent.\n\nFor the present study, analyses will be performed on biospecimens already stored or that will be stored at BancaINSpe, using portions of material already collected for the LAMA2\\_GUP24002 protocol.",[55],"LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)","2026-07-30",{"date":58,"type":35},"2026-08-04",{"date":60,"type":20},"2026-08-01",{"date":62,"type":20},"2029-07",{"name":64,"class":42},"IRCCS San Raffaele",1,{"id":67,"slug":68,"hasResults":11,"nctId":69,"briefTitle":70,"officialTitle":71,"acronym":4,"eligibilityCriteria":72,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":73,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":75,"conditions":76,"keywords":79,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":85,"completionDateStruct":87,"leadSponsor":89,"locationsCount":65},"100602555","characterization-of-the-natural-history-of-lama2-rd-and-identification-of-novel-disease-biomarkers-100602555","NCT07125040","Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers","Characterization of the Natural History of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) Patients and Identification of Novel Disease Biomarkers","INCLUSION\n\nDiagnosis of LAMA2-related dystrophy confirmed via:\n\n1. Two causative mutations in the LAMA2 gene or Muscle biopsy with absence of\n2. merosin (laminin-211) and at least one causative mutation in the LAMA2 gene or\n\n   * Consistent phenotype and affected siblings with criteria a) or b) and\n   * Ability to participate in study visits at least every 12 months during a 24 months period.\n   * Ability to sign informed consent for adults or parents\u002F legal tutors for children\n\nEXCLUSION\n\n* Lack of a confirmed diagnosis of LAMA2-relate dystrophy\n* Inability to participate in study visits at least every 12 months\n* Medical fragility which precludes the ability to safely travel to the study site and\u002For participate in the study assessments",{"count":74,"type":20},45,"The goal of this observational study is to learn about the natural history and multi-organ involvement of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) in pediatric and adult patients. The main questions it aims to answer are:\n\n* What is the prevalence and nature of cardiac involvement, and how do this relate to age and muscular phenotype?\n* What is the prevalence of peripheral neuropathy, and how do this relate to age and muscular phenotype?\n* What is the extent of respiratory, nutritional, skeletal, and cognitive\u002Fbrain involvement, particularly in adults with more severe vs less severe phenotypes?\n* How does quality of life and transition to adulthood occur in individuals with LAMA2-RD?\n* Which nomenclature best reflects differences in disease severity and may support future clinical trial design?\n\nStudy participants will:\n\n* Undergo retrospective and prospective clinical assessments every 12 months for 2 years across multiple centers.\n* A subset of adult participants (n=20) will receive cardiac MRI with contrast enhancement.\n* Provide biological samples during routine blood testing for future research.",[55,24,77,78],"Merosin Deficient CMD (Full or Partial)","Merosin Deficient Congenital Muscular Dystrophy",[80,81],"LAMA2-RD","Natural history","2025-08-07",{"date":84,"type":35},"2025-08-15",{"date":86,"type":35},"2025-07-31",{"date":88,"type":20},"2028-05",{"name":90,"class":42},"Università Vita-Salute San Raffaele",{"id":92,"slug":93,"hasResults":11,"nctId":94,"briefTitle":95,"officialTitle":95,"acronym":4,"eligibilityCriteria":96,"healthyVolunteers":11,"sex":16,"minAge":97,"maxAge":98,"enrollmentInfo":99,"targetDuration":17,"studyType":21,"phases":4,"briefSummary":101,"conditions":102,"keywords":105,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":111,"lastUpdatePostDateStruct":112,"startDateStruct":114,"completionDateStruct":116,"leadSponsor":118,"locationsCount":65},"100587110","spanish-natural-history-study-for-lama2-muscular-dystrophy-100587110","NCT06924125","Spanish Natural History Study for LAMA2 Muscular Dystrophy","Inclusion Criteria:\n\n* All patients with compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant\n* Signed informed consent by the Legal Authority Responsible and\u002For assent by the subject (starting from 6 years old)","0 Minutes","100 Years",{"count":100,"type":20},100,"The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of LAMA2-related dystrophies (LAMA2-RD) in the pediatric population. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.",[55,77,78,103,104],"Muscular Dystrophies","Cohort Studies",[106,107,108,109,110],"Merosin","LAMA2","Laminin","Dystrophy","natural history","2025-04-05",{"date":113,"type":35},"2025-04-11",{"date":115,"type":35},"2021-07-27",{"date":117,"type":20},"2030-07-01",{"name":119,"class":42},"Hospital Universitari Vall d'Hebron Research Institute"]